Substantial changes in reproductive behaviors have recently occurred in many high-income countries, including earlier age at menarche, older age at childbearing, increased childlessness, and fewer children.
As reproduction shifts to older ages, genetic factors may become increasingly important. Although single-gene genetic effects are known, the genetics underlying human reproductive traits are complex, with causal effects and statistical biases often confounded by socioeconomic factors.
Here, we review genome-wide association studies (GWASs) of 44 reproductive traits of female and male individuals from 2007 to early 2024, examining reproductive behavior, reproductive lifespan and aging, infertility, and hormone concentration.
Using the GWAS Catalog as a basis, from 159 relevant studies, we isolated 37 genes harboring association signals for four or more reproductive traits, more than half of which are linked to rare Mendelian disorders, including ten genes linked to reproduction-related disorders: FSHB , MCM8 , DNAH2 , WNT4 , ESR1 , IGSF1 , THRB , BRWD1 , CYP19A1 , and PTPRF .
